RCV000019575 OR RCV000148875 OR RCV000205893 OR RCV000431149 OR RCV003 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219354	NM_001127701.1(SERPINA1):c.[187C>T;739C>T]	SERPINA1 (R247C +1 more)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 17974	NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)	SERPINA1 (R63C)	Single nucleotide variant (missense variant)	SERPINA1-related disorder +2 more	GPathogenic/Likely pathogenic